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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: lindhurst mj. HGG Adv. 2020 Aug 14;1(1):100009. doi: 10.1016/j.xhgg.2020.100009. eCollection 2020 Oct 22. HGG Adv. 2020. PMID: 35047831 Free PMC article.
Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: lindhurst mj. HGG Adv. 2021 Oct 26;3(1):100062. doi: 10.1016/j.xhgg.2021.100062. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35051255 Free PMC article.
Allelic heterogeneity of Proteus syndrome.
Buser A, Lindhurst MJ, Kondolf HC, Yourick MR, Keppler-Noreuil KM, Sapp JC, Biesecker LG. Buser A, et al. Among authors: lindhurst mj. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005181. doi: 10.1101/mcs.a005181. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32327430 Free PMC article.
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG. Keppler-Noreuil KM, et al. Among authors: lindhurst mj. Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782230 Free PMC article.
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Lindhurst MJ, et al. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 Free PMC article.
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group; Vabres P, Semple RK, Biesecker LG. Parker VER, et al. Among authors: lindhurst mj. Genet Med. 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1. Genet Med. 2019. PMID: 30270358 Free PMC article.
25 results